Linked Data
ClinVar Variation Id:
293304
dbSNP Id:
rs16832786
gnomAD v2:
1-161274905-T-C
gnomAD v3:
1-161305115-T-C
gnomAD v4:
1-161305115-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161305115T>C , CM000663.2:g.161305115T>C | GRCh38 |
| NC_000001.10:g.161274905T>C , CM000663.1:g.161274905T>C | GRCh37 |
| NC_000001.9:g.159541529T>C | NCBI36 |
| NG_008055.1:g.9858A>G , LRG_256:g.9858A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000533357.5:c.*761A>G MANE Select | ENSP00000432943.1:n.*761A>G | |
| ENST00000672287.2:c.*761A>G | ENSP00000499818.2:n.*761A>G | |
| ENST00000672602.2:c.*569A>G | ENSP00000500814.2:n.*569A>G | |
| ENST00000674861.1:n.1571A>G | ||
| ENST00000463290.5:c.*517A>G | ENSP00000431538.1:n.*517A>G | |
| ENST00000491222.5:c.*761A>G | ENSP00000431441.1:n.*761A>G | |
| ENST00000533357.4:c.*761A>G | ENSP00000432943.1:n.*761A>G | |
| NM_000530.6:c.*761A>G , LRG_256t1:c.*761A>G | NP_000521.2:n.*761A>G | |
| NM_000530.7:c.*761A>G | NP_000521.2:n.*761A>G | |
| NM_001315491.1:c.*569A>G | NP_001302420.1:n.*569A>G | |
| XM_017001321.2:c.676-774A>G | XP_016856810.1:n.676-774A>G | |
| NM_000530.8:c.*761A>G MANE Select | NP_000521.2:n.*761A>G | |
| NM_001315491.2:c.*569A>G | NP_001302420.1:n.*569A>G |